Open AccessSurvival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
Author(s) -
Melanie Pepin,
Ulrike Schwarze,
Kenneth Rice,
Mingdong Liu,
Dru F. Leistritz,
Peter H. Byers
Publication year - 2014
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2014.72
Subject(s) - ehlers–danlos syndrome , mechanism (biology) , mutation , medicine , genetics , biology , bioinformatics , pathology , gene , physics , quantum mechanics
We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations.
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